Personalized genetic testing not ready

Posted: May 25, 2012 at 1:13 pm

(CNN) -

Getting personalized genetic tests that can pinpoint your risk of developing a number of diseases like cancer, diabetes, Alzheimer's or heart disease are not yet "ready for prime time" according to a new recommendation Tuesday from the American College of Obstetricians and Gynecologists. ACOG says while these tests could be important tools down the road, right now, they should only be used in a clinical trial setting, where experts can put the information into a proper context.

The College published their opinion "Personalized Genomic Testing for Disease Risk" in the June issue of Obstetrics & Gynecology. The advocacy group says the lack of rigorous scientific evidence that the tests are valuable and improve clinical care was the basis for the opinion.

Experts are concerned that a genetic test could tell a patient they have no markers for colon cancer, which could lead someone to get the false impression that they won't get the disease and possibly forego colon screening. On the flip side, genetic testing may reveal that a woman has a 1% risk of getting breast cancer, which could get her very freaked out about getting breast cancer, even though her risk may still be minimal compared to other women without the genetic marker.

"All results require careful interpretation since the result will be affected by other factors such as medical or family history. There is also the potential hazard of a misinterpreted or inaccurate test result, " says Dr. Nancy Rose, Chairman of ACOG's Committee on Genetics.

Dr. Melissa Fries, Director of Genetics and Fetal Medicine at MedStar Washington Hospital Center in Washington, DC supports the new directive. "Genetic testing in general has great power if done for specific indications. We do not know yet the value of tests that may measure minor increases or decrease in the development of disease."

Since the human genome was mapped in 2001 the promise of personalized medicine and genetic testing has been one of medicine's holy grails. Hundreds of genetic variations have been linked to diseases like cancer, but few have been the focus of research that has translated into treatments for patients. As for when these kinds of test will be "ready for prime time?" Rose says the timeframe is currently unknown.

In 2008, ACOG announced their position discouraging people from getting the DNA tested by using home genetic tests you can buy on the internet because they were concerned about " the potential harm of misinterpreted or inaccurate results."

However ACOG does support patients get genetic testing for certain diseases like the BRCA 1 & 2 mutation that increases the risk of breast cancer, Cystic Fibrosis, Fragile X syndrome, the most common form of learning disability and cognitive impairment (occurring predominately in boys), and Tay-Sachs disease, a fatal genetic disorder.

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Personalized genetic testing not ready

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